Activity
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12 actions
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| Autoinflammatory disorders v2.9 | ALPK1 | Achchuthan Shanmugasundram Phenotypes for gene: ALPK1 were changed from Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH) to ROSAH syndrome, OMIM:614979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.6 | ALPK1 |
Achchuthan Shanmugasundram changed review comment from: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/.; to: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. Gain-of-function missense variants in ALPK1 were reported to cause ROSAH in PMID:35868845. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/. |
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| Autoinflammatory disorders v2.6 | ALPK1 |
Achchuthan Shanmugasundram commented on gene: ALPK1: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association. Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation. In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease. This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/. |
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| Autoinflammatory disorders v2.5 | ALPK1 |
Dorota Rowczenio gene: ALPK1 was added gene: ALPK1 was added to Autoinflammatory disorders. Sources: Expert list Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALPK1 were set to PMID: 30967659; PMID: 36332842; PMID: 38251500; PMID: 40069099; PMID: 35868845 Phenotypes for gene: ALPK1 were set to Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH) Penetrance for gene: ALPK1 were set to unknown Review for gene: ALPK1 was set to GREEN Added comment: Sources: Expert list |
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| Autoinflammatory disorders v1.15 | ADA | Arina Puzriakova Phenotypes for gene: ADA were changed from T(-), B(-), NK(-) severe combin immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.12 | ADA | Arina Puzriakova Classified gene: ADA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.12 | ADA |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with partial ADA deficiency or severe combined immunodeficiency (SCID) due to ADA deficiency with multiple unrelated cases reported. Despite ADA null mice displaying severe pulmonary inflammation, could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel |
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| Autoinflammatory disorders v1.12 | ADA | Arina Puzriakova Gene: ada has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.1 | ADA |
Lauma Freimane gene: ADA was added gene: ADA was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 32098966 Phenotypes for gene: ADA were set to T(-), B(-), NK(-) severe combin immunodeficiency Review for gene: ADA was set to GREEN Added comment: Sources: Literature |
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| Autoinflammatory disorders v0.36 | ADA2 | Arina Puzriakova reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.9 | ADA2 | Arina Puzriakova Source NHS GMS was added to ADA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.3 | ADA2 |
Arina Puzriakova gene: ADA2 was added gene: ADA2 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552285; 29564582; 27059682; 24552284; 26922074; 27444081 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 |
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